{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:20:57Z","timestamp":1762431657691,"version":"3.41.2"},"reference-count":47,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,23]],"date-time":"2019-07-23T00:00:00Z","timestamp":1563840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction &amp; Objective<\/jats:title><jats:p>Developmental Dysplasia of the Hip (DDH) is one of the most common congenital skeletal anomalies. Body of evidence suggests that genetic variations in <jats:italic>GDF5<\/jats:italic> are associated with susceptibility to DDH. DDH is a multifactorial disease and its etiology has not been entirely determined. Epigenetic changes such as DNA methylation could be linked to DDH. In this scheme, we hypothesized that changes in <jats:italic>GDF5<\/jats:italic> DNA methylation could predispose a susceptible individual to DDH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study consisted of 45 DDH patients and 45 controls with healthy femoral neck cartilage, who underwent hemi\u2010, or total arthroplasty for the femoral neck fracture. A cartilage sample of 1\u00a0cm in diameter and 1\u00a0mm in the thickness was obtained for DNA extraction. DNA was extracted and DNA methylation of <jats:italic>GDF5<\/jats:italic> was evaluated by metabisulfite method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Methylation analysis showed that the promoter of <jats:italic>GDF5<\/jats:italic> in cartilage samples from DDH patients was hypermethylated in comparison to healthy controls (<jats:italic>p<\/jats:italic>\u00a0=\u00a0.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study showed that the methylation status of the <jats:italic>GDF5<\/jats:italic> in patients with DDH is dysregulated. This dysregulation indicates that adjustment in the methylation might modify the expression of this gene. Since this gene plays an essential role in cartilage and bone development, thus reducing its expression can contribute to the pathogenesis of DDH. Further studies are needed to elucidate the role of <jats:italic>GDF5<\/jats:italic> in this disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.887","type":"journal-article","created":{"date-parts":[[2019,7,24]],"date-time":"2019-07-24T06:52:05Z","timestamp":1563951125000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["DNA hypermethylation of <i>GDF5<\/i> in developmental dysplasia of the hip (DDH)"],"prefix":"10.1002","volume":"7","author":[{"given":"Taghi","family":"Baghdadi","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery Tehran University of Medical Sciences Tehran IR Iran"},{"name":"Joint Reconstruction Research Center Imam Khomeini Hospital, Tehran University of Medical Sciences Tehran IR Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Nejadhosseinian","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Tehran University of Medical Sciences Tehran IR Iran"},{"name":"Joint Reconstruction Research Center Imam Khomeini Hospital, Tehran University of Medical Sciences Tehran IR Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Shirkoohi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tehran University of Medical Sciences Tehran IR Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Mostafavi Tabatabaee","sequence":"additional","affiliation":[{"name":"Joint Reconstruction Research Center Imam Khomeini Hospital, Tehran University of Medical Sciences Tehran IR Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed S.","family":"Tamehri","sequence":"additional","affiliation":[{"name":"Joint Reconstruction Research Center Imam Khomeini Hospital, Tehran University of Medical Sciences Tehran IR Iran"},{"name":"School of medicine Tehran University of Medical Sciences Tehran IR Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mojtaba","family":"Saffari","sequence":"additional","affiliation":[{"name":"Department of medical genetics, School of medicine Tehran University of Medical Sciences Tehran IR Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4189-7777","authenticated-orcid":false,"given":"S. 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